research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
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600-630 / 1000+ resultsresearch Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Genetic prediction of male pattern baldness based on large independent datasets
New models predict male pattern baldness better than old ones but still need improvement.
research Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new risk spots for early hair loss were found, which also link to Parkinson's disease and lower fertility. Two genes, FOXA2 and HDAC4, could be new treatment targets. Hair loss might also be connected to heart disease, metabolic syndrome, and prostate cancer.
research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
research Genotype score associated with the risk of androgenetic alopecia.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research Obstructive sleep apnea, low transferrin saturation levels, and male‐pattern baldness
Men with sleep apnea and low iron levels are more likely to have male-pattern baldness, especially if they have a family history of hair loss.
research Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
research Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men
The research found that genetic factors for male pattern baldness in African men differ significantly from those in Europeans.
research Prevalence and Multivariable Analysis of Risk Factors for Premature Canities Occurring Before the Age of 30 Among Young Adults in Pakistan: A Cross-Sectional Study
Premature graying of hair before age 30 is common and linked to family history, deficiencies, hair loss, oily scalp, anxiety, smoking, and poor diet.
research Correlation of androgenetic alopecia and early onset coronary heart disease in men.
Men with early-onset baldness may have a higher risk of heart disease.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Factors associated with early-onset androgenetic alopecia: A scoping review
Early-onset baldness is linked to genetics, lifestyle, and can indicate higher risk for heart and metabolic diseases, and affects mental health.
research Molecular changes in skin predict predisposition to breast cancer
Skin changes can indicate a risk for breast cancer.
research Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome
Genetic risk factors for Polycystic Ovary Syndrome can affect men too, not just women.
research Forensic DNA Phenotyping: Male Pattern Baldness: Traditional Review
DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
research Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study
Hair loss linked to prostate enlargement; stress and family history important factors.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report
Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.